Article
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
American journal of human genetics - 1 Aug 1991
Delfau M H, Picat C, De Rooij F, Voortman G, Deybach J C, Nordmann Y, Grandchamp B
Abstract excerpt
Four mutations of the porphobilinogen (PBG) deaminase gene that result in cross-reacting immunological material (CRIM)-negative forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA from patients and by cloning of the amplified products in a bacterial...
Topics
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- Cross Reactions
- DNA
- Erythrocytes
- Exons
- Humans
- Hydroxymethylbilane Synthase
- Introns
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Porphyrias